Clinicopathological Conference
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
J Pediatr 126:945-958, Soper,R.,et al, 1995
Fucosidosis Revisited:A Review of 77 Patients
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